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Aliases for ATP5A1 Gene

Aliases for ATP5A1 Gene

  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit 1, Cardiac Muscle 2 3 5
  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit, Isoform 2, Non-Cardiac Muscle-Like 2 2 3
  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit, Isoform 1, Cardiac Muscle 2 3
  • ATP5AL2 3 4
  • ATP5A 3 4
  • ATPM 3 4
  • Epididymis Secretory Sperm Binding Protein Li 123m 3
  • Mitochondrial ATP Synthetase, Oligomycin-Resistant 3
  • ATP Synthase Subunit Alpha, Mitochondrial 3
  • ATP Synthase Alpha Chain, Mitochondrial 3
  • ATP Sythase (F1-ATPase) Alpha Subunit 3
  • EC 3.6.3.14 61
  • HEL-S-123m 3
  • EC 3.6.3 61
  • COXPD22 3
  • MC5DN4 3
  • HATP1 3
  • MOM2 3
  • OMR 3
  • ORM 3

External Ids for ATP5A1 Gene

Previous HGNC Symbols for ATP5A1 Gene

  • ATP5AL2
  • ATPM

Previous GeneCards Identifiers for ATP5A1 Gene

  • GC18M043976
  • GC18M043450
  • GC18M043552
  • GC18M041916
  • GC18M041918
  • GC18M043664
  • GC18M040521

Summaries for ATP5A1 Gene

Entrez Gene Summary for ATP5A1 Gene

  • This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]

GeneCards Summary for ATP5A1 Gene

ATP5A1 (ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit 1, Cardiac Muscle) is a Protein Coding gene. Diseases associated with ATP5A1 include Mitochondrial Complex Deficiency, Nuclear Type 4 and Combined Oxidative Phosphorylation Deficiency 22. Among its related pathways are Transport to the Golgi and subsequent modification and Mitochondrial protein import. GO annotations related to this gene include poly(A) RNA binding and transmembrane transporter activity.

UniProtKB/Swiss-Prot for ATP5A1 Gene

  • Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity).

Gene Wiki entry for ATP5A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5A1 Gene

Genomics for ATP5A1 Gene

Regulatory Elements for ATP5A1 Gene

Enhancers for ATP5A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ATP5A1 on UCSC Golden Path with GeneCards custom track

Promoters for ATP5A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP5A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP5A1 Gene

Chromosome:
18
Start:
46,080,248 bp from pter
End:
46,104,334 bp from pter
Size:
24,087 bases
Orientation:
Minus strand

Genomic View for ATP5A1 Gene

Genes around ATP5A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5A1 Gene

Proteins for ATP5A1 Gene

  • Protein details for ATP5A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25705-ATPA_HUMAN
    Recommended name:
    ATP synthase subunit alpha, mitochondrial
    Protein Accession:
    P25705
    Secondary Accessions:
    • A8K092
    • B4DY56
    • K7ENP3
    • Q53XX6
    • Q8IXV2
    • Q96FB4
    • Q96HW2
    • Q96IR6
    • Q9BTV8

    Protein attributes for ATP5A1 Gene

    Size:
    553 amino acids
    Molecular mass:
    59751 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c. Interacts with ATPAF2 (PubMed:11410595). Interacts with HRG; the interaction occurs on the surface of T-cells and alters the cell morphology when associated with concanavalin (in vitro) (PubMed:19285951). Interacts with PLG (angiostatin peptide); the interaction inhibits most of the angiogenic properties of angiostatin (PubMed:10077593). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68. Interacts with BLOC1S1 (PubMed:22309213). Interacts with BCL2L1 isoform BCL-X(L); the interaction mediates the association of BCL2L1 isoform BCL-X(L) with the mitochondrial membrane F(1)F(0) ATP synthase and enhances neurons metabolic efficency.

    Alternative splice isoforms for ATP5A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP5A1 Gene

Post-translational modifications for ATP5A1 Gene

Domains & Families for ATP5A1 Gene

Suggested Antigen Peptide Sequences for ATP5A1 Gene

Graphical View of Domain Structure for InterPro Entry

P25705

UniProtKB/Swiss-Prot:

ATPA_HUMAN :
  • Belongs to the ATPase alpha/beta chains family.
Family:
  • Belongs to the ATPase alpha/beta chains family.
genes like me logo Genes that share domains with ATP5A1: view

Function for ATP5A1 Gene

Molecular function for ATP5A1 Gene

GENATLAS Biochemistry:
ATP synthase H+ transporting,mitochondrial membrane (F1 segment),alpha subunit isoform 1,oligomycin-resistant,cardiac muscle,complex V of oxidative phosphorylation (OXPHOS)
UniProtKB/Swiss-Prot Function:
Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity).

Enzyme Numbers (IUBMB) for ATP5A1 Gene

Gene Ontology (GO) - Molecular Function for ATP5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10077593
GO:0005524 ATP binding ISS --
GO:0016887 contributes_to ATPase activity IDA 12110673
GO:0022857 transmembrane transporter activity IC 12110673
GO:0042288 MHC class I protein binding IDA 17643490
genes like me logo Genes that share ontologies with ATP5A1: view
genes like me logo Genes that share phenotypes with ATP5A1: view

Human Phenotype Ontology for ATP5A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP5A1 Gene

MGI Knock Outs for ATP5A1:

Animal Model Products

CRISPR Products

miRNA for ATP5A1 Gene

miRTarBase miRNAs that target ATP5A1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ATP5A1 Gene

Localization for ATP5A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5A1 Gene

Mitochondrion inner membrane. Cell membrane; Peripheral membrane protein; Extracellular side. Note=Colocalizes with HRG on the cell surface of T-cells (PubMed:19285951).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP5A1 Gene COMPARTMENTS Subcellular localization image for ATP5A1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
plasma membrane 5
cytosol 2
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ATP5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 1830491
GO:0005743 mitochondrial inner membrane IDA 19016746
GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA 12110673
GO:0005759 mitochondrial matrix TAS --
GO:0005886 plasma membrane IDA 10077593
genes like me logo Genes that share ontologies with ATP5A1: view

Pathways & Interactions for ATP5A1 Gene

genes like me logo Genes that share pathways with ATP5A1: view

Gene Ontology (GO) - Biological Process for ATP5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001937 negative regulation of endothelial cell proliferation IMP 10077593
GO:0006629 lipid metabolic process ISS --
GO:0006754 ATP biosynthetic process TAS --
GO:0009790 embryo development ISS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
genes like me logo Genes that share ontologies with ATP5A1: view

No data available for SIGNOR curated interactions for ATP5A1 Gene

Drugs & Compounds for ATP5A1 Gene

(9) Drugs for ATP5A1 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
1-ACETYL-2-CARBOXYPIPERIDINE Experimental Pharma Target 0
AUROVERTIN B Experimental Pharma Target 0
N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE Experimental Pharma Target 0

(2) Additional Compounds for ATP5A1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(2) ApexBio Compounds for ATP5A1 Gene

Compound Action Cas Number
BTB06584 F1F0 ATP synthases 219793-45-0
Oligomycin A Mitochondrial ATP synthase Inhibitor 579-13-5
genes like me logo Genes that share compounds with ATP5A1: view

Transcripts for ATP5A1 Gene

Unigene Clusters for ATP5A1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - - - -
SP8:
SP9: - - -
SP10: -

Relevant External Links for ATP5A1 Gene

GeneLoc Exon Structure for
ATP5A1
ECgene alternative splicing isoforms for
ATP5A1

Expression for ATP5A1 Gene

mRNA expression in normal human tissues for ATP5A1 Gene

mRNA differential expression in normal tissues according to GTEx for ATP5A1 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.5).

Protein differential expression in normal tissues from HIPED for ATP5A1 Gene

This gene is overexpressed in Heart (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP5A1 Gene



Protein tissue co-expression partners for ATP5A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP5A1 Gene:

ATP5A1

SOURCE GeneReport for Unigene cluster for ATP5A1 Gene:

Hs.298280

mRNA Expression by UniProt/SwissProt for ATP5A1 Gene:

P25705-ATPA_HUMAN
Tissue specificity: Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain, retina and spinal cord.
genes like me logo Genes that share expression patterns with ATP5A1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ATP5A1 Gene

Orthologs for ATP5A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP5A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP5A1 34
  • 92.15 (n)
  • 97.76 (a)
ATP5A1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP5A1 34
  • 92.77 (n)
  • 97.76 (a)
ATP5A1 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp5a1 34
  • 88.41 (n)
  • 97.64 (a)
Atp5a1 16
Atp5a1 35
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP5A1 34
  • 99.64 (n)
  • 100 (a)
ATP5A1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp5a1 34
  • 87.74 (n)
  • 96.92 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP5A1 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP5A1 35
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP5A1 34
  • 82.7 (n)
  • 92.95 (a)
ATP5A1 35
  • 93 (a)
OneToMany
ATP5A1W 35
  • 91 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia ATP5A1 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp5a1 34
  • 80.71 (n)
  • 92.95 (a)
Str.2749 34
African clawed frog
(Xenopus laevis)
Amphibia atp5a1-prov 34
zebrafish
(Danio rerio)
Actinopterygii atp5a1 34
  • 77.8 (n)
  • 91.47 (a)
atp5a1 35
  • 91 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8549 34
fruit fly
(Drosophila melanogaster)
Insecta blw 36
  • 81 (a)
blw 34
  • 72.83 (n)
  • 83.18 (a)
blw 35
  • 81 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005134 34
  • 72.43 (n)
  • 84.34 (a)
worm
(Caenorhabditis elegans)
Secernentea H28O16.1 36
  • 84 (a)
H28O16.1 34
  • 72.62 (n)
  • 84.13 (a)
T26E3.7 35
  • 48 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL272C 34
  • 65.53 (n)
  • 71.29 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E06667g 34
  • 65.91 (n)
  • 71.13 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP1 34
  • 65.75 (n)
  • 73.77 (a)
ATP1 35
  • 70 (a)
OneToOne
ATP1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons atp1 34
  • 63.35 (n)
  • 69.92 (a)
soybean
(Glycine max)
eudicotyledons Gma.17682 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12890 34
rice
(Oryza sativa)
Liliopsida Os.25264 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2102 34
bread mold
(Neurospora crassa)
Ascomycetes NCU02514 34
  • 64.68 (n)
  • 71.59 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atp1 34
  • 66.21 (n)
  • 72.16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2550 35
  • 75 (a)
OneToOne
Species where no ortholog for ATP5A1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP5A1 Gene

ENSEMBL:
Gene Tree for ATP5A1 (if available)
TreeFam:
Gene Tree for ATP5A1 (if available)

Paralogs for ATP5A1 Gene

genes like me logo Genes that share paralogs with ATP5A1: view

No data available for Paralogs for ATP5A1 Gene

Variants for ATP5A1 Gene

Sequence variations from dbSNP and Humsavar for ATP5A1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
VAR_048369 -
VAR_048370 -
rs587776960 Mitochondrial complex V deficiency, nuclear 4 (MC5DN4) 46,087,199(+) TCGGC(A/G)GAGCA reference, missense
rs587777788 Combined oxidative phosphorylation deficiency 22 (COXPD22) 46,087,222(+) GACGG(A/C/T)AAGCA reference, missense
rs2850644 -- 46,100,338(+) aatct(A/C)taaat intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ATP5A1 Gene

Variant ID Type Subtype PubMed ID
dgv549n67 CNV loss 20364138
dgv594e199 CNV deletion 23128226
esv2717032 CNV deletion 23290073
esv3642420 CNV gain 21293372
esv3642421 CNV loss 21293372
esv3642422 CNV gain 21293372
esv3642424 CNV gain 21293372
esv3642425 CNV loss 21293372
nsv1133249 CNV tandem duplication 24896259

Variation tolerance for ATP5A1 Gene

Residual Variation Intolerance Score: 31.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP5A1 Gene

Human Gene Mutation Database (HGMD)
ATP5A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5A1 Gene

Disorders for ATP5A1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ATP5A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex deficiency, nuclear type 4
  • mitochondrial complex v deficiency nuclear type 4
combined oxidative phosphorylation deficiency 22
  • coxpd22
isolated atp synthase deficiency
  • isolated mitochondrial respiratory chain complex v deficiency
mitochondrial complex v deficiency
  • complex 5 mitochondrial respiratory chain deficiency
mitochondrial disorders
  • mitochondrial encephalomyopathies
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATPA_HUMAN
  • Combined oxidative phosphorylation deficiency 22 (COXPD22) [MIM:616045]: A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure. {ECO:0000269 PubMed:23596069}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex V deficiency, nuclear 4 (MC5DN4) [MIM:615228]: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. {ECO:0000269 PubMed:23599390}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP5A1

Genetic Association Database (GAD)
ATP5A1
Human Genome Epidemiology (HuGE) Navigator
ATP5A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP5A1
genes like me logo Genes that share disorders with ATP5A1: view

No data available for Genatlas for ATP5A1 Gene

Publications for ATP5A1 Gene

  1. Nucleotide sequence of a cDNA for the alpha subunit of human mitochondrial ATP synthase. (PMID: 1830491) Kataoka H. … Biswas C. (Biochim. Biophys. Acta 1991) 2 3 4 65
  2. Targeted exome sequencing of suspected mitochondrial disorders. (PMID: 23596069) Lieber D.S. … Mootha V.K. (Neurology 2013) 3 4 65
  3. A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. (PMID: 23599390) Jonckheere A.I. … Rodenburg R.J. (Brain 2013) 3 4 65
  4. Identification of a molecular component of the mitochondrial acetyl transferase program; a novel role for GCN5L1. (PMID: 22309213) Scott I. … Sack M.N. (Biochem. J. 2012) 3 4 65
  5. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X. … Wu X. (Carcinogenesis 2010) 3 46 65

Products for ATP5A1 Gene

Sources for ATP5A1 Gene

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